ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387604 SCV004099098 pathogenic Rett syndrome, congenital variant 2023-09-01 criteria provided, single submitter clinical testing PS2, PM2, PM1, PP3, PP2

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